Methylmalonicaciduria, vitamin B12 unresponsive, mut 0 (medical condition)

A metabolic disorder whose severity is somewhat variable - most patients die within months of birth with survivors having neurological problems. The condition involves abnormal metabolism of vitamin B12 which doesn't respond to treatment using vitamin B12 administration. This disorder is more severe than the mut (-) form. See also Methylmalonicaciduria, vitamin B12 unresponsive, mut 0

Chemwatch
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